Canonical Allele Identifier: CA1590738773
Gene: SLC26A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981422_149981423delinsAG , CM000667.2:g.149981422_149981423delinsAG GRCh38
NC_000005.9:g.149360985_149360986delinsAG , CM000667.1:g.149360985_149360986delinsAG GRCh37
NC_000005.8:g.149341178_149341179delinsAG NCBI36
NG_007147.2:g.22540_22541delinsAG , LRG_684:g.22540_22541delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1829_1830delinsAG MANE Select ENSP00000286298.4:p.Lys610=
ENST00000286298.4:c.1829_1830delinsAG ENSP00000286298.4:p.Lys610=
ENST00000503336.1:c.372+3071_372+3072delinsAG ENSP00000426053.1:n.372+3071_372+3072delinsAG
NM_000112.3:c.1829_1830delinsAG , LRG_684t1:c.1829_1830delinsAG NP_000103.2:p.Lys610=
XM_017009191.2:c.1829_1830delinsAG XP_016864680.1:p.Lys610=
NM_000112.4:c.1829_1830delinsAG MANE Select NP_000103.2:p.Lys610=